Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22842 | 68749;68750;68751 | chr2:178577991;178577990;178577989 | chr2:179442718;179442717;179442716 |
| N2AB | 21201 | 63826;63827;63828 | chr2:178577991;178577990;178577989 | chr2:179442718;179442717;179442716 |
| N2A | 20274 | 61045;61046;61047 | chr2:178577991;178577990;178577989 | chr2:179442718;179442717;179442716 |
| N2B | 13777 | 41554;41555;41556 | chr2:178577991;178577990;178577989 | chr2:179442718;179442717;179442716 |
| Novex-1 | 13902 | 41929;41930;41931 | chr2:178577991;178577990;178577989 | chr2:179442718;179442717;179442716 |
| Novex-2 | 13969 | 42130;42131;42132 | chr2:178577991;178577990;178577989 | chr2:179442718;179442717;179442716 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/N | None | None | 0.999 | N | 0.802 | 0.567 | 0.753854945376 | gnomAD-4.0.0 | 6.85234E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00075E-07 | 0 | 0 |
| I/T | rs368301580  |
-0.726 | 0.999 | N | 0.609 | 0.514 | None | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 0 | 2.94E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| I/T | rs368301580 |
-0.726 | 0.999 | N | 0.609 | 0.514 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| I/T | rs368301580 |
-0.726 | 0.999 | N | 0.609 | 0.514 | None | gnomAD-4.0.0 | 1.79961E-05 | None | None | None | None | N | None | 4.01016E-05 | 1.67802E-05 | None | 0 | 2.23734E-05 | None | 0 | 3.30033E-04 | 1.69635E-05 | 0 | 3.20523E-05 |
| I/V | None | None | 0.985 | N | 0.277 | 0.206 | 0.524843318063 | gnomAD-4.0.0 | 1.37046E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52947E-05 | None | 0 | 0 | 9.00062E-07 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.6152 | likely_pathogenic | 0.644 | pathogenic | -2.272 | Highly Destabilizing | 0.998 | D | 0.486 | neutral | None | None | None | None | N |
| I/C | 0.8405 | likely_pathogenic | 0.8253 | pathogenic | -1.543 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| I/D | 0.9956 | likely_pathogenic | 0.9952 | pathogenic | -2.527 | Highly Destabilizing | 0.999 | D | 0.744 | deleterious | None | None | None | None | N |
| I/E | 0.9863 | likely_pathogenic | 0.9864 | pathogenic | -2.439 | Highly Destabilizing | 0.999 | D | 0.739 | deleterious | None | None | None | None | N |
| I/F | 0.8666 | likely_pathogenic | 0.8641 | pathogenic | -1.501 | Destabilizing | 0.999 | D | 0.675 | prob.neutral | D | 0.525223921 | None | None | N |
| I/G | 0.9704 | likely_pathogenic | 0.971 | pathogenic | -2.683 | Highly Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | N |
| I/H | 0.9932 | likely_pathogenic | 0.9926 | pathogenic | -1.988 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| I/K | 0.9751 | likely_pathogenic | 0.9722 | pathogenic | -1.578 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| I/L | 0.3366 | likely_benign | 0.3439 | ambiguous | -1.143 | Destabilizing | 0.985 | D | 0.315 | neutral | N | 0.495823734 | None | None | N |
| I/M | 0.3063 | likely_benign | 0.3253 | benign | -0.979 | Destabilizing | 0.999 | D | 0.669 | prob.neutral | N | 0.484181392 | None | None | N |
| I/N | 0.9525 | likely_pathogenic | 0.9483 | pathogenic | -1.609 | Destabilizing | 0.999 | D | 0.802 | deleterious | N | 0.502032157 | None | None | N |
| I/P | 0.9017 | likely_pathogenic | 0.8625 | pathogenic | -1.496 | Destabilizing | 0.999 | D | 0.807 | deleterious | None | None | None | None | N |
| I/Q | 0.9773 | likely_pathogenic | 0.9776 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| I/R | 0.9651 | likely_pathogenic | 0.965 | pathogenic | -1.059 | Destabilizing | 0.999 | D | 0.803 | deleterious | None | None | None | None | N |
| I/S | 0.8559 | likely_pathogenic | 0.8588 | pathogenic | -2.22 | Highly Destabilizing | 0.999 | D | 0.721 | deleterious | N | 0.477634025 | None | None | N |
| I/T | 0.5 | ambiguous | 0.5077 | ambiguous | -2.016 | Highly Destabilizing | 0.999 | D | 0.609 | neutral | N | 0.477380535 | None | None | N |
| I/V | 0.0772 | likely_benign | 0.0797 | benign | -1.496 | Destabilizing | 0.985 | D | 0.277 | neutral | N | 0.445240198 | None | None | N |
| I/W | 0.9961 | likely_pathogenic | 0.9958 | pathogenic | -1.75 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| I/Y | 0.9875 | likely_pathogenic | 0.9876 | pathogenic | -1.517 | Destabilizing | 0.999 | D | 0.653 | prob.neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.